Andersen-Tawil syndrome

Summary

DOID:0050434 - Andersen-Tawil syndrome

Disease Ontology Definition:A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.

Synonyms: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS, Andersen syndrome , ATS, Long QT syndrome 7, LQT7, Potassium-Sensitive Cardiodysrhythmic Type

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: kcnj2, kcnj5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008222 - Andersen-Tawil syndrome

MONDO:0008222 - Andersen-Tawil syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), long QT syndrome (is_a)